BRCA2 sequence variants
Case no. | Variant | Age (years) | Eth* | Family history† | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
FB | MB | O | ||||||||||
*Eth., ethnicity; A J, Ashkenazi Jewish; C, non-Jewish white; AA, African American; H, Hispanic; A, Asian. †Number of first, second, or third degree relatives with female breast (FB), male breast (MB), or ovarian (O) cancers. | ||||||||||||
Deleterious mutations | ||||||||||||
50 | 6174delT | 70 | J | 0 | 0 | 0 | ||||||
148 | 6174delT | 54 | J | 0 | 0 | 0 | ||||||
208 | 6174delT | 41 | J | 0 | 0 | 0 | ||||||
307 | 9132delC | 45 | W | 2 | 0 | 0 | ||||||
383 | 6174delT | 45 | J | 2 | 1 | 0 | ||||||
461 | 6174delT | 41 | J | 3 | 0 | 1 | ||||||
Variants of uncertain significance | ||||||||||||
43 | D1420Y/10323delCins11 | 70 | W | 0 | 0 | 0 | ||||||
91 | 2166C→T | 53 | W | 1 | 0 | 0 | ||||||
111 | IVS9–90A→G | 48 | W | 0 | 0 | 0 | ||||||
116 | S1172L | 58 | W | 0 | 0 | 0 | ||||||
149 | D1420Y | 61 | W | 2 | 0 | 0 | ||||||
219 | I2944F | 71 | AA | 1 | 0 | 0 | ||||||
246 | 10338G→A | 61 | W | 3 | 0 | 0 | ||||||
267 | T3013I | 48 | W | 2 | 0 | 0 | ||||||
307 | K2950N | 45 | W | 2 | 0 | 0 | ||||||
331 | IVS15–114delAGT | 79 | J | 0 | 0 | 0 | ||||||
386 | I2944F | 45 | H | 0 | 0 | 0 | ||||||
475 | I2944F | 58 | AA | 0 | 0 | 0 | ||||||
482 | 10338G→A | 67 | W | 0 | 0 | 0 | ||||||
516 | IVS24–16T→C | 38 | A | 0 | 0 | 0 | ||||||
517 | V3091S | 30 | W | 0 | 0 | 0 |